Linked Data
dbSNP Id:
rs1458280020
gnomAD v2:
3-165547455-A-C
gnomAD v4:
3-165829667-A-C
COSMIC:
COSM4408746
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165829667A>C , CM000665.2:g.165829667A>C | GRCh38 |
| NC_000003.11:g.165547455A>C , CM000665.1:g.165547455A>C | GRCh37 |
| NC_000003.10:g.167030149A>C | NCBI36 |
| NG_009031.1:g.12799T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.1367T>G MANE Select | ENSP00000264381.3:p.Leu456Arg | |
| ENST00000264381.7:c.1367T>G | ENSP00000264381.3:p.Leu456Arg | |
| ENST00000479451.5:c.107+7647T>G | ENSP00000418325.1:n.107+7647T>G | |
| ENST00000482958.1:c.1367T>G | ENSP00000419804.1:p.Leu456Arg | |
| ENST00000488954.1:c.107+7647T>G | ENSP00000418504.1:n.107+7647T>G | |
| ENST00000497011.5:c.1367T>G | ENSP00000419505.1:p.Leu456Arg | |
| NM_000055.2:c.1367T>G | NP_000046.1:p.Leu456Arg | |
| XM_005247685.1:c.1490T>G | XP_005247742.1:p.Leu497Arg | |
| NM_000055.3:c.1367T>G | NP_000046.1:p.Leu456Arg | |
| NR_137635.1:n.159+7647T>G | ||
| NR_137636.1:n.1534T>G | ||
| NM_000055.4:c.1367T>G MANE Select | NP_000046.1:p.Leu456Arg | |
| NR_137635.2:n.110+7647T>G | ||
| NR_137636.2:n.1485T>G |